Article
Exome-wide Analysis of De Novo and Rare Genetic Variants in Patients With Brain Arteriovenous Malformation.
Neurology - 19 Apr 2022
Wang Kun, Zhao Sen, Xie Zhixin, Zhang Mingqi, Zhao Hengqiang, Cheng Xi, Zhang Yisen, Niu Yuchen, Liu Jian, Zhang Terry Jianguo, Zhang Ying, Wu Zhihong, Chu Junsheng, Yang Xinjian, Wu Nan
Abstract excerpt
BACKGROUND AND OBJECTIVES: Brain arteriovenous malformation (bAVM) is a congenital disorder and a leading cause of hemorrhagic stroke. Germline genetic variants play an essential role in the pathogenesis of bAVM. However, the biological relevance of disease-associated genes identified in previous studies is elusive. In this study, we aim to systematically investigate the contribution of germline variants to bAVM...
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